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Results: 1-25 | 26-50 | 51-61 |
Results: 51-61/61
MOLECULAR-BASIS OF MUCOPOLYSACCHARIDOSIS TYPE-II - MUTATIONS IN THE IDURONATE-2-SULFATASE GENE
Authors: HOPWOOD JJ BUNGE S MORRIS CP WILSON PJ STEGLICH C BECK M SCHWINGER E GAL A
Citation: Jj. Hopwood et al., MOLECULAR-BASIS OF MUCOPOLYSACCHARIDOSIS TYPE-II - MUTATIONS IN THE IDURONATE-2-SULFATASE GENE, Human mutation, 2(6), 1993, pp. 435-442
HETEROZYGOUS NULL ALLELE MUTATION IN THE HUMAN PERIPHERIN RDS GENE/
Authors: MEINS M GRUNING G BLANKENAGEL A KRASTEL H RECK B FUCHS S SCHWINGER E GAL A
Citation: M. Meins et al., HETEROZYGOUS NULL ALLELE MUTATION IN THE HUMAN PERIPHERIN RDS GENE/, Human molecular genetics, 2(12), 1993, pp. 2181-2182
IDURONATE-2-SULFATASE GENE-MUTATIONS IN 16 PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER SYNDROME)
Authors: BUNGE S STEGLICH C ZUTHER C BECK M MORRIS CP SCHWINGER E SCHINZEL A HOPWOOD JJ GAL A
Citation: S. Bunge et al., IDURONATE-2-SULFATASE GENE-MUTATIONS IN 16 PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II (HUNTER SYNDROME), Human molecular genetics, 2(11), 1993, pp. 1871-1875
INFLUENCE OF PREIMPLANTATION DIAGNOSIS ON PERINATAL-CARE
Authors: SCHWINGER E
Citation: E. Schwinger, INFLUENCE OF PREIMPLANTATION DIAGNOSIS ON PERINATAL-CARE, Archives of gynecology and obstetrics, 254(1-4), 1993, pp. 20-24
MOLECULAR ANALYSIS AND GENETIC-MAPPING OF THE RHODOPSIN GENE IN FAMILIES WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: BUNGE S WEDEMANN H DAVID D TERWILLIGER DJ VANDENBORN LI AULEHLASCHOLZ C SAMANNS C HORN M OTT J SCHWINGER E SCHINZEL A DENTON MJ GAL A
Citation: S. Bunge et al., MOLECULAR ANALYSIS AND GENETIC-MAPPING OF THE RHODOPSIN GENE IN FAMILIES WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, Genomics, 17(1), 1993, pp. 230-233
CYTOGENETIC, FISH AND DNA STUDIES IN 11 INDIVIDUALS FROM A FAMILY WITH 2 SIBLINGS WITH DUP(21Q) DOWN-SYNDROME
Authors: BARTSCH O KONIG U PETERSEN MB POULSEN H MIKKELSEN M PALAU F PRIETO F SCHWINGER E
Citation: O. Bartsch et al., CYTOGENETIC, FISH AND DNA STUDIES IN 11 INDIVIDUALS FROM A FAMILY WITH 2 SIBLINGS WITH DUP(21Q) DOWN-SYNDROME, Human genetics, 92(2), 1993, pp. 127-132
MOLECULAR ANALYSIS IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II SUGGESTS THAT DXS466 MAPS WITHIN THE HUNTER GENE
Authors: STEGLICH C BUNGE S HULSEBOS T BECK M BRANDT NJ SCHWINGER E HOPWOOD JJ GAL A
Citation: C. Steglich et al., MOLECULAR ANALYSIS IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE-II SUGGESTS THAT DXS466 MAPS WITHIN THE HUNTER GENE, Human genetics, 92(2), 1993, pp. 179-182
POLYPLOIDIES IN ABORTION MATERIAL DECREASE WITH MATERNAL AGE
Authors: NEUBER M REHDER H ZUTHER C LETTAU R SCHWINGER E
Citation: M. Neuber et al., POLYPLOIDIES IN ABORTION MATERIAL DECREASE WITH MATERNAL AGE, Human genetics, 91(6), 1993, pp. 563-566
THE EFFECT OF 13-14 ROBERTSONIAN TRANSLOCATIONS ON GERM-CELL DIFFERENTIATION IN INFERTILE MALES
Authors: JOHANNISSON R SCHWINGER E WOLFF HH VOMENDE V LOHRS U
Citation: R. Johannisson et al., THE EFFECT OF 13-14 ROBERTSONIAN TRANSLOCATIONS ON GERM-CELL DIFFERENTIATION IN INFERTILE MALES, Cytogenetics and cell genetics, 63(3), 1993, pp. 151-155
MOLECULAR-GENETIC DIAGNOSTICS FOR WISCOTT -ALDRICH SYNDROME
Authors: ORTH U ROSENKRANZ W SCHWINGER E HOLZGREVE W GAL A
Citation: U. Orth et al., MOLECULAR-GENETIC DIAGNOSTICS FOR WISCOTT -ALDRICH SYNDROME, Monatsschrift fur Kinderheilkunde, 141(9), 1993, pp. 728-731
PROGEROID SYNDROME WITH SHORT STATURE AND PIGMENTED NEVI
Authors: BARTSCH O TYMPNER KD SCHWINGER E GORLIN RJ
Citation: O. Bartsch et al., PROGEROID SYNDROME WITH SHORT STATURE AND PIGMENTED NEVI, American journal of human genetics, 53(3), 1993, pp. 398-398
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